by Congential kidney diseases are those conditions that affect a small percentage of the total population. According to the National Organization for Rare Disorders (NORD), a disease is considered rare if it affects fewer than 200,000 people in the United States. There are over 7,000 recognized rare diseases affecting about 25-30 million Americans. Congential kidney diseases can be genetic, autoimmune, or caused by other factors. Unlike more common kidney diseases, Congential kidney diseases often lack effective treatments and can be difficult to diagnose due to their uncommon nature.
Polycystic Kidney Disease
One of the most well-known Rare Kidney Disease is polycystic kidney disease (PKD). PKD is a genetic disorder characterized by the growth of numerous cysts within the kidneys which gradually replace normal kidney tissue. There are two main types of PKD – autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). ADPKD affects approximately 1 in 400 to 1,000 people while ARPKD affects 1 in 20,000 newborns. Symptoms of PKD include high blood pressure, kidney pain, blood in the urine, and urinary tract infections. As the kidneys enlarge and their function declines over many years, PKD ultimately leads to end-stage renal disease requiring dialysis or kidney transplant. While there is no cure for PKD, certain treatments can help slow its progression.
Fabry Disease
Fabry disease is a rare inherited lysosomal storage disorder caused by mutations in the GLA gene, which provides instructions for producing an enzyme called alpha-galactosidase A. Due to the shortage of this enzyme, globotriaosylceramide and other fatty substances accumulate within cells of the body. With Fabry disease, fatty buildup most seriously affects the kidneys, heart, and nervous system. Symptoms often present in childhood or young adulthood and may include kidney failure, heart disease, strokes, and severe pain. Treatment focuses on enzyme replacement therapy to slow disease progression. Proper treatment can help Fabry patients lead full lives despite limitations from their condition.
Nephronophthisis
Nephronophthisis (NPHP) encompasses a group of rare hereditary kidney diseases characterized by cyst formation within the kidneys and progressive loss of kidney function. Between 1 in 50,000 to 1 in 100,000 people are affected by NPHP. While the exact cause is unknown, NPHP is known to be genetically inherited in an autosomal recessive pattern. The kidneys develop an enlarged appearance as cysts replace normal renal tissue. Ultimately, NPHP leads to end-stage renal disease, frequently by young adulthood. Unfortunately, there is currently no cure, though kidney transplantation can treat end-stage disease. Research into the genetic causes of NPHP aims to develop new treatment strategies.
Rare Kidney Disease present many challenges due to their low prevalence and diverse underlying causes. Advances are being made in understanding their genetic and molecular roots which holds promise for targeted therapies in the future. Improving diagnosis and care coordination are important goals for supporting the well-being of those living with these chronic conditions. Continued research is crucial for making progress against the limitations posed by rare diseases like those affecting the kidney. With further discoveries, patients may one day benefit from more treatment options tailored to their particular form of this burdensome class of illnesses.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
